Frequency of unnecessary prenatal diagnosis of hemoglobinopathies: A large retrospective analysis and implication to improvement of the control program.
A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry.
Plos One
Tesorero, Rafael R; Janda, Joachim J; Hörster, Friederike F; Feyh, Patrik P; Mütze, Ulrike U; Hauke, Jana J; Schwarz, Kathrin K; Kunz, Joachim B JB; Hoffmann, Georg F GF; Okun, Jürgen G JG
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies.
Elife
Tamana, Stella S; Xenophontos, Maria M; Minaidou, Anna A; Stephanou, Coralea C; Harteveld, Cornelis L CL; Bento, Celeste C; Traeger-Synodinos, Joanne J; Fylaktou, Irene I; Yasin, Norafiza Mohd NM; Abdul Hamid, Faidatul Syazlin FS; Esa, Ezalia E; Halim-Fikri, Hashim H; Zilfalil, Bin Alwi BA; Kakouri, Andrea C AC; , ; Kleanthous, Marina M; Kountouris, Petros P
Etiology of Persistent Microalbuminuria in Nigeria (P_MICRO study): protocol and study design.
Bmc Infectious Diseases
Wester, C William CW; Shepherd, Bryan E BE; Wudil, Usman J UJ; Musa, Baba Maiyaki BM; Ingles, Donna J DJ; Prigmore, Heather L HL; Dankishiya, Faisal S FS; Ahonkhai, Aima A AA; Grema, Bukar A BA; Budge, Philip J PJ; Takakura, Ayumi A; Olabisi, Opeyemi A OA; Winkler, Cheryl A CA; Kopp, Jeffrey B JB; Bonventre, Joseph V JV; Wyatt, Christina M CM; Aliyu, Muktar H MH
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Frontiers In Genetics
Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A
Publication Date: 2022
Variant appearance in text: HBB: 19G>A; rs33930165
Best practices for the interpretation and reporting of clinical whole genome sequencing.
Npj Genomic Medicine
Austin-Tse, Christina A CA; Jobanputra, Vaidehi V; Perry, Denise L DL; Bick, David D; Taft, Ryan J RJ; Venner, Eric E; Gibbs, Richard A RA; Young, Ted T; Barnett, Sarah S; Belmont, John W JW; Boczek, Nicole N; Chowdhury, Shimul S; Ellsworth, Katarzyna A KA; Guha, Saurav S; Kulkarni, Shashikant S; Marcou, Cherisse C; Meng, Linyan L; Murdock, David R DR; Rehman, Atteeq U AU; Spiteri, Elizabeth E; Thomas-Wilson, Amanda A; Kearney, Hutton M HM; Rehm, Heidi L HL; ,
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.
Nature Communications
Naslavsky, Michel S MS; Scliar, Marilia O MO; Yamamoto, Guilherme L GL; Wang, Jaqueline Yu Ting JYT; Zverinova, Stepanka S; Karp, Tatiana T; Nunes, Kelly K; Ceroni, José Ricardo Magliocco JRM; de Carvalho, Diego Lima DL; da Silva Simões, Carlos Eduardo CE; Bozoklian, Daniel D; Nonaka, Ricardo R; Dos Santos Brito Silva, Nayane N; da Silva Souza, Andreia A; de Souza Andrade, Heloísa H; Passos, Marília Rodrigues Silva MRS; Castro, Camila Ferreira Bannwart CFB; Mendes-Junior, Celso T CT; Mercuri, Rafael L V RLV; Miller, Thiago L A TLA; Buzzo, Jose Leonel JL; Rego, Fernanda O FO; Araújo, Nathalia M NM; Magalhães, Wagner C S WCS; Mingroni-Netto, Regina Célia RC; Borda, Victor V; Guio, Heinner H; Rojas, Carlos P CP; Sanchez, Cesar C; Caceres, Omar O; Dean, Michael M; Barreto, Mauricio L ML; Lima-Costa, Maria Fernanda MF; Horta, Bernardo L BL; Tarazona-Santos, Eduardo E; Meyer, Diogo D; Galante, Pedro A F PAF; Guryev, Victor V; Castelli, Erick C EC; Duarte, Yeda A O YAO; Passos-Bueno, Maria Rita MR; Zatz, Mayana M
Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns.
Hgg Advances
Gold, Nina B NB; Harrison, Steven M SM; Rowe, Jared H JH; Gold, Jessica J; Furutani, Elissa E; Biffi, Alessandra A; Duncan, Christine N CN; Shimamura, Akiko A; Lehmann, Leslie E LE; Green, Robert C RC
The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing.
International Journal Of Neonatal Screening
Zhou, Janet R JR; Ridsdale, Ross R; MacNeil, Lauren L; Lilley, Margaret M; Hoang, Stephanie S; Christian, Susan S; Blumenschein, Pamela P; Wolan, Vanessa V; Bruce, Aisha A; Singh, Gurpreet G; Wright, Nicola N; Parboosingh, Jillian S JS; Lamont, Ryan E RE; Sosova, Iveta I
Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.
American Journal Of Human Genetics
Hu, Yao Y; Stilp, Adrienne M AM; McHugh, Caitlin P CP; Rao, Shuquan S; Jain, Deepti D; Zheng, Xiuwen X; Lane, John J; Méric de Bellefon, Sébastian S; Raffield, Laura M LM; Chen, Ming-Huei MH; Yanek, Lisa R LR; Wheeler, Marsha M; Yao, Yao Y; Ren, Chunyan C; Broome, Jai J; Moon, Jee-Young JY; de Vries, Paul S PS; Hobbs, Brian D BD; Sun, Quan Q; Surendran, Praveen P; Brody, Jennifer A JA; Blackwell, Thomas W TW; Choquet, Hélène H; Ryan, Kathleen K; Duggirala, Ravindranath R; Heard-Costa, Nancy N; Wang, Zhe Z; Chami, Nathalie N; Preuss, Michael H MH; Min, Nancy N; Ekunwe, Lynette L; Lange, Leslie A LA; Cushman, Mary M; Faraday, Nauder N; Curran, Joanne E JE; Almasy, Laura L; Kundu, Kousik K; Smith, Albert V AV; Gabriel, Stacey S; Rotter, Jerome I JI; Fornage, Myriam M; Lloyd-Jones, Donald M DM; Vasan, Ramachandran S RS; Smith, Nicholas L NL; North, Kari E KE; Boerwinkle, Eric E; Becker, Lewis C LC; Lewis, Joshua P JP; Abecasis, Goncalo R GR; Hou, Lifang L; O'Connell, Jeffrey R JR; Morrison, Alanna C AC; Beaty, Terri H TH; Kaplan, Robert R; Correa, Adolfo A; Blangero, John J; Jorgenson, Eric E; Psaty, Bruce M BM; Kooperberg, Charles C; Walton, Russell T RT; Kleinstiver, Benjamin P BP; Tang, Hua H; Loos, Ruth J F RJF; Soranzo, Nicole N; Butterworth, Adam S AS; Nickerson, Debbie D; Rich, Stephen S SS; Mitchell, Braxton D BD; Johnson, Andrew D AD; Auer, Paul L PL; Li, Yun Y; Mathias, Rasika A RA; Lettre, Guillaume G; Pankratz, Nathan N; Laurie, Cathy C CC; Laurie, Cecelia A CA; Bauer, Daniel E DE; Conomos, Matthew P MP; Reiner, Alexander P AP; ,
Publication Date: 2021-05-06
Variant appearance in text: HBB: Glu7Lys; rs33930165
Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT.
Plos One
Zhuo, Xinming X; Wang, Qun Q; Vossaert, Liesbeth L; Salman, Roseen R; Kim, Adriel A; Van den Veyver, Ignatia I; Breman, Amy A; Beaudet, Arthur A
IFN-λ4 is associated with increased risk and earlier occurrence of several common infections in African children.
Genes And Immunity
Prokunina-Olsson, Ludmila L; Morrison, Robert D RD; Obajemu, Adeola A; Mahamar, Almahamoudou A; Kim, Sungduk S; Attaher, Oumar O; Florez-Vargas, Oscar O; Sidibe, Youssoufa Y; Onabajo, Olusegun O OO; Hutchinson, Amy A AA; Manning, Michelle M; Kwan, Jennifer J; Brand, Nathan N; Dicko, Alassane A; Fried, Michal M; Albert, Paul S PS; Mbulaiteye, Sam M SM; Duffy, Patrick E PE
Genetic variation in the immune system and malaria susceptibility in infants: a nested case-control study in Nanoro, Burkina Faso.
Malaria Journal
Natama, Hamatandi Magloire HM; Rovira-Vallbona, Eduard E; Krit, Meryam M; Guetens, Pieter P; Sorgho, Hermann H; Somé, M Athanase MA; Traoré-Coulibaly, Maminata M; Valéa, Innocent I; Mens, Petra F PF; Schallig, Henk D F H HDFH; Berkvens, Dirk D; Kestens, Luc L; Tinto, Halidou H; Rosanas-Urgell, Anna A
High-throughput genotyping assays for identification of glycophorin B deletion variants in population studies.
Experimental Biology And Medicine (Maywood, N.J.)
Amuzu, Dominic Sy DS; Rockett, Kirk A KA; Leffler, Ellen M EM; Ansah, Felix F; Amoako, Nicholas N; Morang'a, Collins M CM; Hubbart, Christina C; Rowlands, Kate K; Jeffreys, Anna E AE; Amenga-Etego, Lucas N LN; Kwiatkowski, Dominic P DP; Awandare, Gordon A GA
High-depth African genomes inform human migration and health.
Nature
Choudhury, Ananyo A; Aron, Shaun S; Botigué, Laura R LR; Sengupta, Dhriti D; Botha, Gerrit G; Bensellak, Taoufik T; Wells, Gordon G; Kumuthini, Judit J; Shriner, Daniel D; Fakim, Yasmina J YJ; Ghoorah, Anisah W AW; Dareng, Eileen E; Odia, Trust T; Falola, Oluwadamilare O; Adebiyi, Ezekiel E; Hazelhurst, Scott S; Mazandu, Gaston G; Nyangiri, Oscar A OA; Mbiyavanga, Mamana M; Benkahla, Alia A; Kassim, Samar K SK; Mulder, Nicola N; Adebamowo, Sally N SN; Chimusa, Emile R ER; Muzny, Donna D; Metcalf, Ginger G; Gibbs, Richard A RA; , ; Rotimi, Charles C; Ramsay, Michèle M; , ; Adeyemo, Adebowale A AA; Lombard, Zané Z; Hanchard, Neil A NA
Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations.
Plos Genetics
Kowalski, Madeline H MH; Qian, Huijun H; Hou, Ziyi Z; Rosen, Jonathan D JD; Tapia, Amanda L AL; Shan, Yue Y; Jain, Deepti D; Argos, Maria M; Arnett, Donna K DK; Avery, Christy C; Barnes, Kathleen C KC; Becker, Lewis C LC; Bien, Stephanie A SA; Bis, Joshua C JC; Blangero, John J; Boerwinkle, Eric E; Bowden, Donald W DW; Buyske, Steve S; Cai, Jianwen J; Cho, Michael H MH; Choi, Seung Hoan SH; Choquet, Hélène H; Cupples, L Adrienne LA; Cushman, Mary M; Daya, Michelle M; de Vries, Paul S PS; Ellinor, Patrick T PT; Faraday, Nauder N; Fornage, Myriam M; Gabriel, Stacey S; Ganesh, Santhi K SK; Graff, Misa M; Gupta, Namrata N; He, Jiang J; Heckbert, Susan R SR; Hidalgo, Bertha B; Hodonsky, Chani J CJ; Irvin, Marguerite R MR; Johnson, Andrew D AD; Jorgenson, Eric E; Kaplan, Robert R; Kardia, Sharon L R SLR; Kelly, Tanika N TN; Kooperberg, Charles C; Lasky-Su, Jessica A JA; Loos, Ruth J F RJF; Lubitz, Steven A SA; Mathias, Rasika A RA; McHugh, Caitlin P CP; Montgomery, Courtney C; Moon, Jee-Young JY; Morrison, Alanna C AC; Palmer, Nicholette D ND; Pankratz, Nathan N; Papanicolaou, George J GJ; Peralta, Juan M JM; Peyser, Patricia A PA; Rich, Stephen S SS; Rotter, Jerome I JI; Silverman, Edwin K EK; Smith, Jennifer A JA; Smith, Nicholas L NL; Taylor, Kent D KD; Thornton, Timothy A TA; Tiwari, Hemant K HK; Tracy, Russell P RP; Wang, Tao T; Weiss, Scott T ST; Weng, Lu-Chen LC; Wiggins, Kerri L KL; Wilson, James G JG; Yanek, Lisa R LR; Zöllner, Sebastian S; North, Kari E KE; Auer, Paul L PL; , ; , ; Raffield, Laura M LM; Reiner, Alexander P AP; Li, Yun Y
Publication Date: 2019-12
Variant appearance in text: HBB: Glu7Lys; rs33930165
A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT.
Scientific Reports
Tsao, David S DS; Silas, Sukrit S; Landry, Brian P BP; Itzep, Nelda P NP; Nguyen, Amy B AB; Greenberg, Samuel S; Kanne, Celeste K CK; Sheehan, Vivien A VA; Sharma, Rani R; Shukla, Rahul R; Arora, Prem N PN; Atay, Oguzhan O
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: HBB: 19G>A; Glu7Lys; rs33930165
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Thirty-year risk of ischemic stroke in individuals with sickle cell trait and modification by chronic kidney disease: The atherosclerosis risk in communities (ARIC) study.
American Journal Of Hematology
Caughey, Melissa C MC; Derebail, Vimal K VK; Key, Nigel S NS; Reiner, Alexander P AP; Gottesman, Rebecca F RF; Kshirsagar, Abhijit V AV; Heiss, Gerardo G
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Co-inheritance of a-thalassemia dramatically decreases the risk of acute splenic sequestration in a large cohort of newborns with hemoglobin SC.
Haematologica
Rezende, Paulo V PV; Belisário, André R AR; Oliveira, Érica L ÉL; Almeida, Jéssica A JA; Oliveira, Larissa M M LMM; Muniz, Maristela B S R MBSR; Viana, Marcos B MB
Development and evaluation of a transfusion medicine genome wide genotyping array.
Transfusion
Guo, Yuelong Y; Busch, Michael P MP; Seielstad, Mark M; Endres-Dighe, Stacy S; Westhoff, Connie M CM; Keating, Brendan B; Hoppe, Carolyn C; Bordbar, Aarash A; Custer, Brian B; Butterworth, Adam S AS; Kanias, Tamir T; Mast, Alan E AE; Kleinman, Steve S; Lu, Yontao Y; Page, Grier P GP; ,
Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease.
Plos Genetics
Raffield, Laura M LM; Ulirsch, Jacob C JC; Naik, Rakhi P RP; Lessard, Samuel S; Handsaker, Robert E RE; Jain, Deepti D; Kang, Hyun M HM; Pankratz, Nathan N; Auer, Paul L PL; Bao, Erik L EL; Smith, Joshua D JD; Lange, Leslie A LA; Lange, Ethan M EM; Li, Yun Y; Thornton, Timothy A TA; Young, Bessie A BA; Abecasis, Goncalo R GR; Laurie, Cathy C CC; Nickerson, Deborah A DA; McCarroll, Steven A SA; Correa, Adolfo A; Wilson, James G JG; , ; Lettre, Guillaume G; Sankaran, Vijay G VG; Reiner, Alex P AP
D-Dimer in African Americans: Whole Genome Sequence Analysis and Relationship to Cardiovascular Disease Risk in the Jackson Heart Study.
Arteriosclerosis, Thrombosis, And Vascular Biology
Raffield, Laura M LM; Zakai, Neil A NA; Duan, Qing Q; Laurie, Cecelia C; Smith, Joshua D JD; Irvin, Marguerite R MR; Doyle, Margaret F MF; Naik, Rakhi P RP; Song, Ci C; Manichaikul, Ani W AW; Liu, Yongmei Y; Durda, Peter P; Rotter, Jerome I JI; Jenny, Nancy S NS; Rich, Stephen S SS; Wilson, James G JG; Johnson, Andrew D AD; Correa, Adolfo A; Li, Yun Y; Nickerson, Deborah A DA; Rice, Kenneth K; Lange, Ethan M EM; Cushman, Mary M; Lange, Leslie A LA; Reiner, Alex P AP; ,
Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos.
Plos Genetics
Hodonsky, Chani J CJ; Jain, Deepti D; Schick, Ursula M UM; Morrison, Jean V JV; Brown, Lisa L; McHugh, Caitlin P CP; Schurmann, Claudia C; Chen, Diane D DD; Liu, Yong Mei YM; Auer, Paul L PL; Laurie, Cecilia A CA; Taylor, Kent D KD; Browning, Brian L BL; Li, Yun Y; Papanicolaou, George G; Rotter, Jerome I JI; Kurita, Ryo R; Nakamura, Yukio Y; Browning, Sharon R SR; Loos, Ruth J F RJF; North, Kari E KE; Laurie, Cathy C CC; Thornton, Timothy A TA; Pankratz, Nathan N; Bauer, Daniel E DE; Sofer, Tamar T; Reiner, Alex P AP